Canonical Allele Identifier: CA2797241810
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855096_102855097dup , CM000674.2:g.102855096_102855097dup GRCh38
NC_000012.11:g.103248874_103248875dup , CM000674.1:g.103248874_103248875dup GRCh37
NC_000012.10:g.101773004_101773005dup NCBI36
NG_008690.1:g.67509_67510dup
NG_008690.2:g.108317_108318dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+42_706+43dup MANE Select ENSP00000448059.1:n.706+42_706+43dup
ENST00000307000.7:c.691+42_691+43dup ENSP00000303500.2:n.691+42_691+43dup
ENST00000549111.5:n.844_845dup
ENST00000553106.5:c.706+42_706+43dup ENSP00000448059.1:n.706+42_706+43dup
NM_000277.1:c.706+42_706+43dup NP_000268.1:n.706+42_706+43dup
XM_011538422.1:c.706+42_706+43dup XP_011536724.1:n.706+42_706+43dup
NM_000277.2:c.706+42_706+43dup NP_000268.1:n.706+42_706+43dup
NM_001354304.1:c.706+42_706+43dup NP_001341233.1:n.706+42_706+43dup
XM_017019370.2:c.706+42_706+43dup XP_016874859.1:n.706+42_706+43dup
NM_000277.3:c.706+42_706+43dup MANE Select NP_000268.1:n.706+42_706+43dup
NM_001354304.2:c.706+42_706+43dup NP_001341233.1:n.706+42_706+43dup
Search 100 bp 5'
Search 100 bp 3'